R43H (p.Arg43His) variant of APOE (Apolipoprotein E)
R43H (p.Arg43His) in APOE (Apolipoprotein E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R43H (p.Arg43His) variant details
- p.Arg43His
- ESP rs371694216
- ExAC rs371694216
- TOPMed rs371694216
- gnomAD rs371694216
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.34
- CADD 22.30
- PolyPhen-2 0.05
- SIFT 0.00
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available